Vitamin D receptor gene FokI polymorphism in Egyptian children and adolescents with SLE: A case-control study.

Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism. Methods This was a case-control study, which included 300 patients with cSLE and 300 age, sex, and ethnicity-matched healthy controls. All participants were genotyped for the VDR gene FokI (rs2228570) polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while the serum [25(OH) D] levels were measured by enzyme-linked immunosorbent assay (ELISA). Results The VDR FokI FF genotype and F allele were overrepresented among cSLE patients compared with the controls, [odds ratio (OR) = 2.7; 95% confidence interval (CI): 1.6-4.4 for the FF genotype; p = 0.000; and OR = 1.6; 95% CI: 1.27-2.05 for the F allele; p = 0.000, respectively]. We found a significant association between VDR FokI FF genotype with lupus nephritis (OR: 4.8; 95% CI: 2.2-10.6; p = 0.002); and high disease activity index score ( p = 0.01). Conclusions The FokI polymorphism in the VDR gene may contribute to susceptibility to SLE in Egyptian children and adolescents. Moreover, the FF genotype constituted a risk factor for the development of lupus nephritis and was associated with low serum [25(OH) D] levels as well as higher disease activity index score among studied patients with cSLE.

Effect of simulated leg length discrepancy on plantar pressure distribution in diabetic patients with neuropathic foot ulceration.

OBJECTIVE: To study the effect of a minor degree of artificially induced leg length discrepancy (LLD) on plantar pressure distribution in diabetic patients with neuropathic foot ulceration. METHOD: In-shoe plantar pressure distributions were measured on the ulcerated foot during walking using F-scan (Tekscan Inc.). To simulate minor LLD, the contralateral leg length was changed by asking patients to walk under three different conditions: wearing shoe of the same sole thickness (NLLD), walking with a bare foot (20mm long leg) and wearing a 40mm-high platform-sole shoe (20mm short leg). These three different walking conditions were compared in a randomised, single-blinded crossover design. RESULTS: The study included 28 diabetic patients with neuropathic foot ulcers (53.7 ± 6.8 years; 16 males, 12 female). Notably, the peak pressure and pressure time integral (PTI) were the most affected parameters. PTI significantly increased beneath total foot, mid-foot, 2nd, 3rd, 4th and 5th metatarsal heads (MTHs), and 3rd toe, when the 20mm short leg was simulated (79.4 ± 21.1; 61.5 ± 32.3; 59.9 ± 36.5; 69 ± 42.1; 70.6 ± 42.3; 63.9 ± 33.7; 40.± 33.2 kPa·s, respectively), compared with NLLD (73.7 ± 19.9; 55.524; 51.8 ± 30.1; 58.4 ± 37.6; 60.3 ± 39.5; 57.2 ± 32.3; 36.9 ± 33.3 kPa·s, respectively). CONCLUSION: The short leg of diabetic patients with neuropathic foot ulcers will be subjected to greater pressure load, primarily beneath the total foot, mid-foot and 2nd, 3rd, 4th and 5th metatarsal heads. As such, care should be taken to avoid minor LLD, as it could inadvertently develop on using offloading devices. DECLARATION OF INTEREST: The authors have nothing to declare.

The impact of topical phenytoin on recalcitrant neuropathic diabetic foot ulceration.

OBJECTIVE: To study the impact of topical phenytoin on the healing of recalcitrant neuropathic diabetic foot ulcers in patients with no clinical evidence of ischaemia or infection, and to evaluate its antibacterial effect. METHOD: Thirty-two patients were enrolled into the study. Topical phenytoin in the form of 2% aerosol powder was applied once daily in addition to the patient's usual treatment (weekly sharp debridement, offloading and use of a gauze dressing) for eight weeks. The primary outcome was change in ulcer area over time, measured by grid tracing. Secondary outcomes were the ability of topical phenytoin to eradicate bacterial isolates, and the occurrence of adverse events. RESULTS: Topical phenytoin significantly improved healing of recalcitrant neuropathic diabetic foot ulcers. Baseline wound area was 319.3 + 340.4 mm2, reducing to 286.1 + 341.1 mm2 and 269.1 + 341.2 mm2 after four and eight weeks respectively. However, the overall reduction in ulcer size was only 18.3% + 27.5% and 25.7% + 38.6 % respectively. Topical phenytoin therapy over eight weeks did not eradicate any of the bacterial wound isolates (Staphylococcus spp., Proteus spp. or Pseudomonas spp.). Of the 32 patients evaluated, only eight (25%) achieved more than 50% reduction in ulcer size after eight weeks of treatment. CONCLUSION: Topical phenytoin can enhance wound healing in recalcitrant neuropathic diabetic foot ulcers, although only one-quarter of patients achieved more than 50% reduction in ulcer size after eight weeks of therapy. Further research is needed to characterise those patients who will satisfactorily respond to such therapy.

Clinical electrophysiologic assessment of ulnar nerve transposition in tuberculoid leprosy.

Ulnar nerve transposition was accomplished in 24 tuberculoid leprotic patients, making a total of 27 operations. Results were assessed clinically and electrophysiologically, pre- and postoperatively, and compared with a control group of 30 patients. Excellent results were obtained in early cases with minimal electromyographic changes. Late cases did not improve after surgery.

Primary Burkitt's lymphoma of the frontal bone. Case report.

The author reports a case of recurrent Burkitt's lymphoma in the left frontal region with extradural extension. Craniotomy was performed to relieve rapidly progressive intracranial compression. The patient received cytotoxic treatment postoperatively, with remarkable regression of the tumor.